N42S (p.Asn42Ser) variant of NCF2 (Neutrophil cytosol factor 2)
N42S (p.Asn42Ser) in NCF2 (Neutrophil cytosol factor 2) is a missense change. The available record places it in the context of Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes experimental measurements, published literature, and structural context.
N42S (p.Asn42Ser) variant details
- p.Asn42Ser
- rs137854514
- ClinGen CA145205
- ClinVar RCV000059357
- UniProt VAR 065002
- not provided
- Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.533
- AlphaMissense 0.34
- MetaLR 0.43
- MetaSVM -0.16
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: not provided (Granulomatous disease, chronic, autosomal recessive, cytochrome)
- EBI: Pathogenic (in CGD2)
- UniProt: Pathogenic (in CGD2)
- Structural context available
- NCF2 SH3 domain domainome 1.0: score -0.466
- Cited in: Hematologically important mutations: the autosomal recessive forms of chronic granulomatous disease (second update). (PMID 20167518)
- Cited in: Molecular characterization of autosomal recessive chronic granulomatous disease caused by a defect of the nicotinamide… (PMID 10498624)